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347 results on '"Gibbs, J Raphael"'

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1. Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing

2. Profiling complex repeat expansions in RFC1 in Parkinson’s disease

4. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

5. Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

6. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

8. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

9. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

10. Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy

11. Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.

13. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

14. Genome-Wide Analysis of Structural Variants in Parkinson Disease

15. No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs

17. Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

21. RNA Binding Activity of the Recessive Parkinsonism Protein DJ-1 Supports Involvement in Multiple Cellular Pathways

22. Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk.

24. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinsonʼs disease

25. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

26. A Genome-Wide Association Study of Myasthenia Gravis

27. Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes

28. Identification of candidate parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets

29. ATXN2 intermediate expansions in amyotrophic lateral sclerosis.

30. TBK1 is associated with ALS and ALS-FTD in Sardinian patients

33. Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

35. Structural genomic variation in ischemic stroke

36. Association of a common genetic variant with Parkinson's disease is mediated by microglia.

37. Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.

38. RNA binding activity of the recessive parkinsonism protein D J-1 supports involvement in multiple cellular pathways

39. Genotype, haplotype and copy-number variation in worldwide human populations

40. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

41. A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

42. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

43. Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

44. Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinsonʼs disease

45. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

48. Missense variant in TREML2 protects against Alzheimer's disease

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